News in the SPP 2127

By Stieger Knut 16 Apr, 2024
Neuer Titel
By Stieger Knut 26 Sep, 2023
In the picturesque town of Weilburg, Germany, where history meets innovation, a remarkable event recently unfolded. Scientists, researchers, and experts from around the world gathered for the annual meeting of the DFG funded research program SPP2127, titled "Gene and Cell-Based Therapies to Counteract Neuroretinal Degeneration." This captivating event, hosted at the Castle Hotel Weilburg, was a melting pot of knowledge, ideas, and collaborations that promises to revolutionize the field of neuroretinal research. SPP2127: Pioneering the Fight Against Neuroretinal Degeneration Neuroretinal degeneration, a group of debilitating eye diseases that cause progressive vision loss, has long been a formidable challenge in the field of ophthalmology. However, thanks to the DFG (Deutsche Forschungsgemeinschaft) funded research program SPP2127, scientists have been granted the resources and platform to pool their talents and tackle this issue head-on. SPP2127 focuses on exploring gene and cell-based therapies to combat neuroretinal degeneration. These innovative approaches hold the promise of not just slowing down the progression of these diseases but potentially reversing the damage, restoring sight to those who have lost it. The Annual Meeting at Castle Hotel Weilburg: A Nexus of Scientific Brilliance The Castle Hotel Weilburg, with its rich history and stunning architecture, provided the perfect backdrop for this momentous scientific gathering. The event unfolded over three days, and each day was filled with intensive discussions, presentations of cutting-edge research, and the sharing of groundbreaking results. The collaborative spirit was palpable as researchers from diverse backgrounds and institutions engaged in spirited debates, shared insights, and brainstormed solutions to the complex challenges posed by neuroretinal degeneration. One of the highlights of the event was the announcement of start-up funding awards for young scientists. These awards not only recognize the potential of these emerging researchers but also invest in the future of neuroretinal research . Congratulations to all the recipients! Exploring Weilburg: A Glimpse into the Past While the primary focus of the meeting was on advancing science, the organizers also ensured that attendees had a chance to explore the charming old town of Weilburg. The second day included a city tour that allowed participants to immerse themselves in the rich history and culture of this beautiful German town. International Collaboration at Its Best SPP2127's annual meeting was not just a local event. It drew invited guests from renowned institutions in Ghent, Basel, Marburg, and the United States, including the National Institutes of Health (NIH). This international presence further enriched the discussions and emphasized the global significance of the research being conducted. Over the three days, the meeting provided a rare opportunity for most members of the consortium and numerous young scientists to come together, connect, and intensify their collaborations. The exchange of ideas, methodologies, and experiences was invaluable, fostering a sense of unity and purpose among all participants. A Bright Future for Neuroretinal Research The annual meeting of SPP2127 at Castle Hotel Weilburg was a testament to the power of collaborative research. As we move forward in the fight against neuroretinal degeneration, the connections made and knowledge shared during this event will undoubtedly pave the way for groundbreaking therapies and, ultimately, the restoration of vision for those in need.  The Castle Hotel Weilburg may have witnessed centuries of history, but the SPP2127 meeting showcased the bright future of neuroretinal research, one where science and collaboration shine as beacons of hope for those affected by these debilitating diseases. As we eagerly await the developments that will emerge from this meeting, we can be certain that the quest to conquer neuroretinal degeneration is stronger and more unified than ever before.
25 Jul, 2023
The city of Dresden, known for its rich cultural heritage and scientific achievements, became a hub of innovation and knowledge during the recent Summer School organized by the Special Priority Programme (SPP2127). This three-day event brought together passionate young scientists, including PhD students and postdocs, to learn, collaborate, and unlock their potential in the field of research. Hosted at the renowned labs of esteemed researchers, Mike O. Karl and Marius Ader, the Summer School provided a unique platform for budding researchers to enhance their grant writing skills, gain valuable insights from fellow students' projects, and embark on their journey to secure internal grants within the SPP2127 framework. Fostering Future Leaders in Research The SPP2127 Summer School is part of the program's commitment to fostering the next generation of scientific leaders. This initiative was designed to empower young scientists by equipping them with essential skills, enabling them to contribute to the growing body of knowledge in their respective fields. The program focused on three key aspects: grant writing, project presentations, and the formulation of proposals for SPP2127 internal grants. Mastering the Art of Grant Writing The Summer School commenced with a series of workshops led by experts in grant writing, where participants gained insights into the nuances of crafting compelling proposals. Seasoned researchers shared their experiences, offering valuable advice on how to identify funding opportunities, structure proposals, and effectively communicate the significance of their research. The young scientists were encouraged to think innovatively, ensuring their projects aligned with the broader goals of SPP2127. Peer Learning and Project Presentations The summer school provided an excellent opportunity for attendees to showcase their ongoing research projects. Each participant presented their work to their peers, fostering an environment of collaboration and constructive feedback. This platform enabled budding scientists to refine their presentation skills and learn from diverse research approaches. The supportive atmosphere encouraged open discussions and stimulated fresh ideas, inspiring participants to tackle research challenges with renewed enthusiasm. The Path to SPP2127 Internal Grants The highlight of the Summer School was the final day, dedicated to present the proposals for SPP2127 internal grants. Armed with the knowledge acquired from grant writing workshops and inspired by peer interactions, the participants pitched their project proposals. Mentors Mike O. Karl and Marius Ader were on hand to provide personalized guidance and expertise. The young scientists were encouraged to explore interdisciplinary collaborations, aligning their projects with the overarching themes of SPP2127. Impact and Beyond The impact of the SPP2127 Summer School extended beyond the three-day event. The participants returned to their home institutions with newfound skills, confidence, and a broader network of collaborators. As they pursued their research projects, they remained connected through an online platform, facilitating continuous support and knowledge exchange.  For many, the Summer School marked the beginning of an exciting journey towards securing internal grants within the SPP2127 program. The scientific community eagerly awaits the outcomes of these proposals, anticipating groundbreaking research that will shape the future of various fields.
By Stieger Knut 05 Apr, 2023
As a research consortium, we recently held a research meeting that brought together PhD students and professors to share their latest findings, exchange ideas, and foster collaborations. Despite the ongoing pandemic, we were able to hold the meeting in person, taking all the necessary precautions to ensure everyone's safety. One of the highlights of the meeting was the science slam for the PhD students. Instead of the traditional poster session, the students had the opportunity to present their research projects in a fun and engaging way, using creative formats such as poetry, music, or theater. The science slam proved to be a fantastic opportunity for the students to showcase their research in a more interactive and dynamic way, engaging the audience in their discoveries and sparking curiosity and interest in their work. The format also allowed for personal and direct feedback from the attendees, as they could ask questions and engage in lively discussions with the presenters. The science slam was not only a great platform for the students to share their research projects, but also a valuable experience in science communication, which is becoming increasingly important in today's world. The students had to think outside the box and find creative ways to present their work, making it accessible and engaging for a wider audience. As a research consortium, our mission is to foster interdisciplinary collaboration, promote innovative research, and contribute to advancing knowledge in our fields of expertise. The research meeting is a key element of our strategy, and we look forward to continuing to organize such events in the future. We believe that by bringing together bright minds and diverse perspectives, we can create a vibrant and dynamic research community that can tackle the most pressing challenges of our times. Overall, the research meeting was a resounding success, with the science slam proving to be one of the most popular and engaging events. It was a great example of how we can foster a culture of innovation, creativity, and collaboration in our research community, by providing opportunities for the next generation of scholars to share their ideas and learn from one another.
By Stieger Knut 17 May, 2022
We are ready for the next chapter!
By Stieger Knut 23 Mar, 2022
T he official confirmation and refusal letters of the DFG were sent out to the applications for the second funding period some weeks ago. We are looking forward to a fresh mix of researchers and topics and can't wait to meet all the new and old PIs for our in-person kick off meeting in June! Still - we are sad that so many great researchers are not a part of the SPP anymore as they did not receive further funding. But we will continue to cooperate and foster our established networks from the first funding period! Until now, the consortium of the second funding period of the SPP 2127 met for a short online meeting to answer the most urgent questions and get to know each other a bit.
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Publications during

the second funding period

    • April 2024

      • Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. Stehle IF, Imventarza JA, Woerz F, Hoffmann F, Boldt K, Beyer T, Quinn PM, Ueffing M. Life Sci Alliance. 2024 Apr 3;7(6):e202302440. doi: 10.26508/lsa.202302440.
    • March 2024

      •  Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants. De Angeli P, Flores-Tufiño A, Stingl K, Kühlewein L, Roschi E, Wissinger B, Kohl S. Mol Ther Nucleic Acids. 2023 Dec 27;35(1):102113. doi: 10.1016/j.omtn.2023.102113. eCollection 2024 Mar 12. 

      • Long-Term Porcine Retina Explants as an Alternative to In Vivo Experimentation. Weller M, Müller B, Stieger K. Transl Vis Sci Technol. 2024 Mar 1;13(3):9. doi: 10.1167/tvst.13.3.9
    • December 2023

      • Deletion of IFT20 exclusively in the RPE ablates primary cilia and leads to retinal degeneration. Kretschmer V, Schneider S, Matthiessen PA, Reichert D, Hotaling N, Glasßer G, Lieberwirth I, Bharti K, De Cegli R, Conte I, Nandrot EF, May-Simera HL. PLoS Biol. 2023 Dec 4;21(12):e3002402. doi: 10.1371/journal.pbio.3002402. 

      • Invited Session II: Retinal remodeling and regeneration: Insights into retinal cell replacement: Optimising photoreceptor and RPE transplantation. Tessmer K, Gasparini SJ, Hammer J, Adhikari T, Schmidtke K, Knöbel S, Ader M. J Vis. 2023 Dec 1;23(15):10. doi: 10.1167/jov.23.15.10.
    • October 2023

      • Reliability of human retina organoid generation from hiPSC-derived neuroepithelial cysts.  Carido M, Völkner M, Steinheuer LM, Wagner F, Kurth T, Dumler N, Ulusoy S, Wieneke S, Norniella AV, Golfieri C, Khattak S, Schönfelder B, Scamozzi M, Zoschke K, Canzler S, Hackermüller J, Ader M, Karl MO. Front Cell Neurosci. 2023 Oct 6;17:1166641. doi: 10.3389/fncel.2023.1166641

      • mRNA trans-splicing dual AAV vectors for (epi)genome editing and gene therapy. Riedmayr LM, Hinrichsmeyer KS, Thalhammer SB, Mittas DM, Karguth N, Otify DY, Böhm S, Weber VJ, Bartoschek MD, Splith V, Brümmer M, Ferreira R, Boon N, Wögenstein GM, Grimm C, Wijnholds J, Mehlfeld V, Michalakis S, Fenske S, Biel M, Becirovic E. Nat Commun. 2023 Oct 18;14(1):6578. doi: 10.1038/s41467-023-42386-0.
    • June 2023

    • May 2023

      • Generation of iPSC-derived human forebrain organoids assembling bilateral eye primordia. Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Riparbelli MG, Callaini G, Karch CM, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. Nat Protoc. 2023 May 17. doi: 10.1038/s41596-023-00814-x.

      • Modeling inducible neuropathologies of the retina with differential phenotypes in organoids. Völkner M, Wagner F, Kurth T, Sykes AM, Del Toro Runzer C, Ebner LJA, Kavak C, Alexaki VI, Cimalla P, Mehner M, Koch E, Karl MO. Front Cell Neurosci. 2023 May 5;17:1106287. doi: 10.3389/fncel.2023.1106287
    • Januar 2023

    • October 2022

      • HBEGF-TNF induce a complex outer retinal pathology with photoreceptor cell extrusion in human organoids. Völkner M, Wagner F, Steinheuer LM, Carido M, Kurth T, Yazbeck A, Schor J, Wieneke S, Ebner LJA, Del Toro Runzer C, Taborsky D, Zoschke K, Vogt M, Canzler S, Hermann A, Khattak S, Hackermüller J, Karl MO. Nat Commun. 2022 Oct 19;13(1):6183. doi: 10.1038/s41467-022-33848-y.

      • Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. Jurkute N, Cancellieri F, Pohl L, Li CHZ, Heaton RA, Reurink J, Bellingham J, Quinodoz M, Yioti G, Stefaniotou M, Weener M, Zuleger T, Haack TB, Stingl K; Genomics England Research Consortium, Hoyng CB, Mahroo OA, Hargreaves I, Raymond FL, Michaelides M, Rivolta C, Kohl S, Roosing S, Webster AR, Arno G. NPJ Genom Med. 2022 Oct 20;7(1):60. doi: 10.1038/s41525-022-00330-z.

       

      • Long-term morphological and functional dynamics of human stem cell-derived neuronal networks on high-density micro-electrode arrays. Habibey R, Striebel J, Schmieder F, Czarske J, Busskamp V. Front Neurosci. 2022 Oct 4;16:951964. doi: 10.3389/fnins.2022.951964
    • September 2022

    • August 2022

      • Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches.  De Angeli P, Reuter P, Hauser S, Schöls L, Stingl K, Wissinger B, Kohl S. Mol Ther Nucleic Acids. 2022 Jul 31;29:511-524. doi: 10.1016/j.omtn.2022.07.023. eCollection 2022 Sep 13.

      • Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Fritze J, Gür B, Kaplan L, Andreani T, Goldmann T, Brooks M, Starostik MR, Lokhande A, Apel M, Fath KR, Stingl K, Kohl S, DeAngelis MM, Schlötzer-Schrehardt U, Kim IK, Owen LA, Vetter JM, Pfeiffer N, Andrade-Navarro MA, Grosche A, Swaroop A, Wolfrum U. Hum Mol Genet. 2022 Aug 23:ddac211. doi: 10.1093/hmg/ddac211
    • July 2022

    • June 2022

      • Optogenetics for visual restoration: From proof of principle to translational challenges.  Lindner M, Gilhooley MJ, Hughes S, Hankins MW. Prog Retin Eye Res. 2022 Jun 9:101089. doi: 10.1016/j.preteyeres.2022.101089

      • Characterization of Double-Strand Break Repair Protein Ku80 Location Within the Murine Retina. Müller B, Serafin F, Laucke LL, Rheinhard W, Wimmer T, Stieger K. Invest Ophthalmol Vis Sci. 2022 Jun 1;63(6):22. doi: 10.1167/iovs.63.6.22.

      • Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S, Wissinger B. Int J Mol Sci. 2022 Jun 20;23(12):6868. doi: 10.3390/ijms23126868.
    • May 2022

      • Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa. Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, Zobor D; RD-CURE Consortium. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):9. doi: 10.1167/iovs.63.5.9.

      • Gene-independent therapeutic interventions to maintain and restore light sensitivity in degenerating photoreceptors. Zuzic M, Striebel J, Pawlick JS, Sharma K, Holz FG, Busskamp V. Prog Retin Eye Res. 2022 May 10:101065. doi: 10.1016/j.preteyeres.2022.101065. 

        

      • Comparison of Photographic Screening Methods for Diabetic Retinopathy - A Meta-analysis. Yan W, McGuinness M, Chakrabarti R, Fotis K, Finger RP. Ophthalmic Epidemiol. 2022 May 23:1-9. doi: 10.1080/09286586.2022.2065311.

        

      • Development of retinal atrophy after subretinal gene therapy with voretigene neparvovec. Reichel FF, Seitz I, Wozar F, Dimopoulos S, Jung R, Kempf M, Kohl S, Kortüm FC, Ott S, Pohl L, Stingl K, Bartz-Schmidt KU, Stingl K, Fischer MD. Br J Ophthalmol. 2022 May 24:bjophthalmol-2021-321023. doi: 10.1136/bjophthalmol-2021-321023.

    Publications during

    the first funding period

    • May 2022

      •  Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa. Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, Zobor D; RD-CURE Consortium. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):9. doi: 10.1167/iovs.63.5.9.
    • April 2022

      • Transplanted human cones incorporate and function in a murine cone degeneration model. Gasparini SJ, Tessmer K, Reh M, Wieneke S, Carido M, Völkner M, Borsch O, Swiersy A, Zuzic M, Goureau O, Kurth T, Busskamp V, Zeck G, Karl MO, Ader M. J Clin Invest. 2022 Apr 28:e154619. doi: 10.1172/JCI154619. 
    • March 2022

      •  Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes. Grotz S, Schäfer J, Wunderlich KA, Ellederova Z, Auch H, Bähr A, Runa-Vochozkova P, Fadl J, Arnold V, Ardan T, Veith M, Santamaria G, Dhom G, Hitzl W, Kessler B, Eckardt C, Klein J, Brymova A, Linnert J, Kurome M, Zakharchenko V, Fischer A, Blutke A, Döring A, Suchankova S, Popelar J, Rodríguez-Bocanegra E, Dlugaiczyk J, Straka H, May-Simera H, Wang W, Laugwitz KL, Vandenberghe LH, Wolf E, Nagel-Wolfrum K, Peters T, Motlik J, Fischer MD, Wolfrum U, Klymiuk N. EMBO Mol Med. 2022 Mar 7:e14817. doi: 10.15252/emmm.202114817. 

      • Evaluation of Local Rod and Cone Function in Stargardt Disease. Stingl K, Hoyng C, Kempf M, Kohl S, Jung R, Righetti G, Kühlewein L, Pohl L, Kortüm F, Kelbsch C, Wilhelm B, Peters T, Stingl K; SORAPRAZAN consortium. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):6. doi: 10.1167/iovs.63.3.6. 

       

      • Evidence for endogenous exchange of cytoplasmic material between a subset of cone and rod photoreceptors within the adult mammalian retina via direct cell-cell connections. Heisterkamp P, Borsch O, Lezama ND, Gasparini S, Fathima A, Carvalho LS, Wagner F, Karl MO, Schlierf M, Ader M. Exp Eye Res. 2022 Mar 11:109033. doi: 10.1016/j.exer.2022.109033.

      • Subretinal Implantation of Human Primary RPE Cells Cultured on Nanofibrous Membranes in Minipigs. Lytvynchuk L, Ebbert A, Studenovska H, Nagymihály R, Josifovska N, Rais D, Popelka Š, Tichotová L, Nemesh Y, Čížková J, Juhásová J, Juhás Š, Jendelová P, Franeková J, Kozak I, Erceg S, Straňák Z, Müller B, Ellederová Z, Motlík J, Stieger K, Ardan T, Petrovski G. Biomedicines. 2022 Mar 14;10(3):669. doi: 10.3390/biomedicines10030669. 

      • Inherited Retinal Degeneration: PARP-Dependent Activation of Calpain Requires CNG Channel Activity. Yan J, Günter A, Das S, Mühlfriedel R, Michalakis S, Jiao K, Seeliger MW, Paquet-Durand F. Biomolecules. 2022 Mar 15;12(3):455. doi: 10.3390/biom12030455.

      • Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Sampol LM, Messias A, Meunier I, Porto FBO, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Cumhur Sener E, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Hum Mutat. 2022 Mar 25. doi: 10.1002/humu.24371. Online ahead of print.
    • February 2022

      • dCas9-VPR-mediated transcriptional activation of functionally equivalent genes for gene therapy. Riedmayr LM, Hinrichsmeyer KS, Karguth N, Böhm S, Splith V, Michalakis S, Becirovic E. Nat Protoc. 2022 Feb 7. doi: 10.1038/s41596-021-00666-3. Online ahead of print.
    • January 2022

      • Label-free imaging flow cytometry for analysis and sorting of enzymatically dissociated tissues. Herbig M, Tessmer K, Nötzel M, Nawaz AA, Santos-Ferreira T, Borsch O, Gasparini SJ, Guck J, Ader M. Sci Rep. 2022 Jan 19;12(1):963. doi: 10.1038/s41598-022-05007-2.

      • Incidence, progression and risk factors of age-related macular degeneration in 35-95-year-old individuals from three jointly designed German cohort studies. Brandl C, Günther F, Zimmermann ME, Hartmann KI, Eberlein G, Barth T, Winkler TW, Linkohr B, Heier M, Peters A, Li JQ, Finger RP, Helbig H, Weber BHF, Küchenhoff H, Mueller A, Stark KJ, Heid IM. BMJ Open Ophthalmol. 2022 Jan 4;7(1):e000912. doi: 10.1136/bmjophth-2021-000912. eCollection 2022.
    • November 2021

        

      • Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus. Fars J, Pasutto F,<a value="kremers" label="" type="page" href="/kremers" data-runtime-url="/kremers"> Kremers J, Huchzermeyer C. Invest Ophthalmol Vis Sci. 2021 Nov 1;62(14):24. doi: 10.1167/iovs.62.14.24.

      • Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells. Schäfer N, Rasras A, Ormenisan DM, Amslinger S, Enzmann V, Jägle H, Pauly D. Front Immunol. 2021 Nov 8;12:769242. doi: 10.3389/fimmu.2021.769242.

        

      • Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions. Righetti G, Kempf M, Braun C, Jung R, Kohl S, Wissinger B, Zrenner E,  Stingl K. Int J Mol Sci. 2021 Nov 24;22(23):12717. doi: 10.3390/ijms222312717.
    • September 2021

      • Human stem cell-based retina on chip as new translational model for validation of AAV retinal gene therapy vectors. Achberger K, Cipriano M, Düchs MJ, Schön C, Michelfelder S, Stierstorfer B, Lamla T, Kauschke SG, Chuchuy J, Roosz J, Mesch L, Cora V, Pars S, Pashkovskaia N, Corti S, Hartmann SM, Kleger A, Kreuz S, Maier U, Liebau S, Loskill P. Stem Cell Reports. 2021 Sep 14;16(9):2242-2256. doi: 10.1016/j.stemcr.2021.08.008.

      • Neuronal Cell-type Engineering by Transcriptional Activation. Liu S, Striebel J, Pasquini G, Ng AHM, Khoshakhlagh P, Church GM, Busskamp V. Front Genome Ed. 2021 Sep 1;3:715697. doi: 10.3389/fgeed.2021.715697. eCollection 2021.
    • August 2021

      • In vivo potency testing of subretinal rAAV5.hCNGB1 gene therapy in the Cngb1 knockout mouse model of retinitis pigmentosa. Wagner JE, Zobel L, Gerhardt MJ, O'Riordan CR, Frederick A, Petersen-Jones SM, Biel M, Michalakis S. Hum Gene Ther. 2021 Aug 10. doi: 10.1089/hum.2021.121. Online ahead of print.

        

      • Human brain organoids assemble functionally integrated bilateral optic vesicles. Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Schinzel F, Karch CM, Bao G, Gottardo M, Suren AA, Hescheler J, Nagel-Wolfrum K, Persico V, Rizzoli SO, Altmüller J, Riparbelli MG, Callaini G, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. Cell Stem Cell. 2021 Aug 12:S1934-5909(21)00295-2. doi: 10.1016/j.stem.2021.07.010. Online ahead of print.

      • Sodium Iodate-Induced Degeneration Results in Local Complement Changes and Inflammatory Processes in Murine Retina. Enzbrenner A, Zulliger R, Biber J, Pousa AMQ, Schäfer N, Stucki C, Giroud N, Berrera M, Kortvely E, Schmucki R, Badi L, Grosche A, Pauly D, Enzmann V. Int J Mol Sci. 2021 Aug 26;22(17):9218. doi: 10.3390/ijms22179218.
    • July 2021

      • Human gaze is systematically offset from the center of cone topography. Reiniger JL, Domdei N, Holz FG, Harmening WM. Curr Biol. 2021 Jul 27:S0960-9822(21)00960-X. doi: 10.1016/j.cub.2021.07.005. Online ahead of print.

      • Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia. Kohl S, Baumann B, Dassie F, Mayer AK, Solaki M, Reuter P, Kühlewein L, Wissinger B, Maffei P. Int J Mol Sci. 2021 Jul 22;22(15):7842. doi: 10.3390/ijms22157842.
    • June 2021

      • TPC2 promotes choroidal angiogenesis and inflammation in a mouse model of neovascular age-related macular degeneration. Li Y, Schön C, Chen CC, Yang Z, Liegl R, Murenu E, Schworm B, Klugbauer N, Grimm C, Wahl-Schott C, Michalakis S, Biel MLife Sci Alliance. 2021 Jun 28;4(8):e202101047. doi: 10.26508/lsa.202101047. Print 2021 Aug
    • May 2021


      • Longitudinal Evaluation of Hyper-Reflective Foci in the Retina Following Subretinal Delivery of Adeno-Associated Virus in Non-Human Primates. Rodríguez-Bocanegra E, Wozar F, Seitz IP, Reichel FFL, Ochakovski A, Bucher K, Wilhelm B, Bartz-Schmidt KU, Peters T, Fischer MD; RD-CURE Consortium. Transl Vis Sci Technol. 2021 May 3;10(6):15. doi: 10.1167/tvst.10.6.15.

      • Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial. Reichel FF, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Sothilingam V, Kuehlewein L, Kahle N, Seitz I, Paquet-Durand F, Tsang SH, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B, Fischer D. Br J Ophthalmol. 2021 May 18:bjophthalmol-2021-319067. doi: 10.1136/bjophthalmol-2021-319067
    • April 20201

      • Mouse Retinal Organoid Growth and Maintenance in Longer-Term Culture. Völkner M, Kurth T, Schor J, Ebner LJA, Bardtke L, Kavak C, Hackermüller J, Karl MO. Front Cell Dev Biol. 2021 Apr 27;9:645704. doi: 10.3389/fcell.2021.645704
    • March 2021


      • Cell Surface Profiling of Retinal Müller Glial Cells Reveals Association to Immune Pathways after LPS Stimulation. Lorenz L, Hirmer S, Schmalen A, Hauck SM, Deeg CA.  Cells. 2021 Mar 23;10(3):711. doi: 10.3390/cells10030711.

      • The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J. Int J Mol Sci. 2021 Mar 30;22(7):3583. doi: 10.3390/ijms22073583.
    • February 2021

      • Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders. Pavlou M, Schön C, Occelli LM, Rossi A, Meumann N, Boyd RF, Bartoe JT, Siedlecki J, Gerhardt MJ, Babutzka S, Bogedein J, Wagner JE, Priglinger SG, Biel M, Petersen-Jones SM, Büning H, Michalakis S. EMBO Mol Med. 2021 Feb 22:e13392. doi: 10.15252/emmm.202013392

        

      • Surgical Aspects in Gene Therapy for Inherited Retinal Diseases. Fischer MD, Bartz-Schmidt KU, Dimopoulos S, Herrmann P, Gerhardt M, Holz F, Priglinger S. Klin Monbl Augenheilkd. 2021 Feb 22. doi: 10.1055/a-1315-1331.

        

      • NEU1 is more abundant in uveitic retina with concomitant desialylation of retinal cells. Lorenz L, Amann B, Hirmer S, Degroote RL, Hauck SM, Deeg CA. Glycobiology. 2021 Feb 23:cwab014. doi: 10.1093/glycob/cwab014.

      • Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium. Schneider S, De Cegli R, Nagarajan J, Kretschmer V, Matthiessen PA, Intartaglia D, Hotaling N, Ueffing M, Boldt K, Conte I, May-Simera HL.  Front Cell Dev Biol. 2021 Feb 18;9:607121. doi: 
    • January 2021

      • X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR. Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N. Int J Mol Sci. 2021 Jan 16;22(2):E850. doi: 10.3390/ijms22020850.

        

      • PDGF Receptor Alpha Signaling Is Key for Müller Cell Homeostasis Functions. Díaz-Lezama N, Wolf A, Koch S, Pfaller AM, Biber J, Guillonneau X, Langmann T, Grosche A. Int J Mol Sci. 2021 Jan 25;22(3):1174. doi: 10.3390/ijms22031174.

      • Development of the Vision Impairment in Low Luminance Questionnaire. Pondorfer SG, Terheyden JH, Overhoff H, Stasch-Bouws J, Holz FG, Finger RP. Transl Vis Sci Technol. 2021 Jan 6;10(1):5. doi: 10.1167/tvst.10.1.5. eCollection 2021 Jan.


      • Automated quantification of posterior vitreous inflammation: optical coherence tomography scan number requirements. Terheyden JH, Ometto G, Montesano G, Wintergerst MWM, Langner M, Liu X, Keane PA, Crabb DP, Denniston AK, Finger RP. Sci Rep. 2021 Feb 8;11(1):3271. doi: 10.1038/s41598-021-82786-0.

        

      • Automated methods for cell type annotation on scRNA-seq data. Pasquini G, Rojo Arias JE, Schäfer P, Busskamp V. Comput Struct Biotechnol J. 2021 Jan 19;19:961-969. doi: 10.1016/j.csbj.2021.01.015. 

    • December 2020

      • Trends and challenges in modeling glioma using 3D human brain organoids. Mariappan A, Goranci-Buzhala G, Ricci-Vitiani L, Pallini R, Gopalakrishnan J. Cell Death Differ. 2020 Dec 1:1-9. doi: 10.1038/s41418-020-00679-7

      • Use of composite endpoints in early and intermediate age-related macular degeneration clinical trials - state-of-the-art and future directions. Terheyden JH, Schmitz-Valckenberg S, Crabb DP, Dunbar H, Luhmann UFO, Behning C, Schmid M, Pires I, Cunha-Vaz J, Tufail A, Weissgerber G, Leal S, Holz FG, Finger RP. Ophthalmologica. 2020 Dec 7. doi: 10.1159/000513591.

      • The cGMP-Dependent Protein Kinase 2 Contributes to Cone Photoreceptor Degeneration in the Cnga3-Deficient Mouse Model of Achromatopsia. Koch M, Scheel C, Ma H, Yang F, Stadlmeier M, Glück AF, Murenu E, Traube FR, Carell T, Biel M, Ding XQ, Michalakis S. Int J Mol Sci. 2020 Dec 23;22(1):E52. doi: 10.3390/ijms22010052.
    • November 2020

      • A Human Retinal Pigment Epithelium-Based Screening Platform Reveals Inducers of Photoreceptor Outer Segments Phagocytosis. Schreiter S, Vafia K, Barsacchi R, Tsang SH, Bickle M, Ader M, Karl MO, Tanaka EM, Almedawar S. Stem Cell Reports. 2020 Nov 17:S2213-6711(20)30423-9. doi: 10.1016/j.stemcr.2020.10.013  

      • Organoids and organ chips in ophthalmology. Manafi N, Shokri F, Achberger K, Hirayama M, Mohammadi MH, Noorizadeh F, Hong J, Liebau S, Tsuji T, Quinn PMJ, Mashaghi A. Ocul Surf. 2020 Nov 18:S1542-0124(20)30171-3. doi: 10.1016/j.jtos.2020.11.004

      • Cell-Type-Specific Complement Profiling in the ABCA4-/- Mouse Model of Stargardt Disease. Jabri Y, Biber J, Diaz-Lezama N, Grosche A, Pauly D  Int J Mol Sci. 2020 Nov 11;21(22):E8468. doi: 10.3390/ijms21228468.


      •  The Rise of Retinal Organoids for Vision Research, K. Sharma, T.U. Krone, V. Busskamp, Int. J. Mol. Sci. 2020, 21(22), 8484; doi: 10.3390/ijms21228484 (registering DOI) Received: 30 September 2020 / Revised: 3 November 2020 / Accepted: 7 November 2020 / Published: 11 November 2020 

      • A comprehensive library of human transcription factors for cell fate engineering, AHM Ng; P Khoshakhlagh, JER Arias, G Pasquini, K Wang, A Swiersy, SL Shipman, E Appleton, K Kiaee, RE Kohman, A Vernet, M Dysart, K Leeper, W Saylor, JY Huang, A Graveline, J Taipale, DE Hill, M Vidal, JM Melero-Martin, V Busskamp, GM Church, Nat Biotechnol (2020). doi: 10.1038/s41587-020-0742-6
    • September 2020


      • Lifetime Outcomes of Anti-Vascular Endothelial Growth Factor Treatment for Neovascular Age-Related Macular Degeneration. Finger RP, Puth MT, Schmid M, Barthelmes D, Guymer RH, Gillies M. JAMA Ophthalmol. 2020 Oct 15. doi: 10.1001/jamaophthalmol.2020.3989.  

      • Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. JAMA Ophthalmol. 2020 Oct 15. doi: 10.1001/jamaophthalmol.2020.4206.

        

      • Immune responses to retinal gene therapy using adeno-associated viral vectors - Implications for treatment success and safety. Bucher K, Rodríguez-Bocanegra E, Dauletbekov D, Fischer MD. Prog Retin Eye Res. 2020 Oct 15:100915. doi: 10.1016/j.preteyeres.2020.100915.

      • Predicting progression to advanced age-related macular degeneration from clinical, genetic and lifestyle factors using machine learning. Ajana S, Cougnard-Grégoire A, Colijn JM, Merle BM, Verzijden T, de Jong PT, Hofman A, Vingerling JR, Hejblum BP, Korobelnik JF, Meester-Smoor MA, Ueffing M, Jacqmin-Gadda H, Klaver CC, Delcourt C; EYE-RISK Consortium. Ophthalmology. 2020 Sep 2:S0161-6420(20)30849-6. doi: 10.1016/j.ophtha.2020.08.031
    • August 2020


      • Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany. Uhrmann MF, Lorenz B, Gissel C. Transl Vis Sci Technol. 2020 Aug 10;9(9):17. doi: 10.1167/tvst.9.9.17. eCollection 2020 Aug

      • A gene therapy for inherited blindness using dCas9-VPR-mediated transcriptional activation. Böhm S, Splith V, Riedmayr LM, Rötzer RD, Gasparoni G, Nordström KJV, Wagner JE, Hinrichsmeyer KS, Walter J, Wahl-Schott C, Fenske S, Biel M, Michalakis S, Becirovic E. Sci Adv. 2020 Aug 19;6(34):eaba5614. doi: 10.1126/sciadv.aba5614

       

      • Properdin Modulates Complement Component Production in Stressed Human Primary Retinal Pigment Epithelium Cells. Schäfer N, Wolf HN, Enzbrenner A, Schikora J, Reichenthaler M, Enzmann V, Pauly D. Antioxidants (Basel). 2020 Aug 26;9(9):E793. doi: 10.3390/antiox9090793.

      • Clinical protocols for the evaluation of rod function. Stingl K, Nowomiejska K, Kuehlewein L, Kohl S, Kempf M, Strasser T, Jung R, Wilhelm B, Peters T, Kelbsch C, Bartz-Schmidt KU, Langrova H, Zrenner E. Ophthalmologica. 2020 Aug 17. doi: 10.1159/000510888.

      • Non-adherence or non-persistence to intravitreal injection therapy for neovascular age-related macular degeneration: a mixed-methods systematic review. Okada M, Mitchell P, Finger RP, Eldem B, Talks SJ, Hirst C, Paladini L, Barratt J, Wong TY, Loewenstein A. Ophthalmology. 2020 Aug 4:S0161-6420(20)30748-X. doi: 10.1016/j.ophtha.2020.07.060.
    • July 2020

      • Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium. de Breuk A, Acar IE, Kersten E, Schijvenaars MMVAP, Colijn JM, Haer-Wigman L, Bakker B, de Jong S, Meester-Smoor MA, Verzijden T, Missotten TOAR, Monés J, Biarnés M, Pauleikhoff D, Hense HW, Silva R, Nunes S, Melo JB, Fauser S, Hoyng CB, Ueffing M, Coenen MJH, Klaver CCW, den Hollander AI; EYE-RISK Consortium. Ophthalmology. 2020 Jul 24:S0161-6420(20)30725-9. doi: 10.1016/j.ophtha.2020.07.037  

      • Clinical study protocol for a low-interventional study in intermediate age-related macular degeneration developing novel clinical endpoints for interventional clinical trials with a regulatory and patient access intention-MACUSTAR. Terheyden JH, Holz FG, Schmitz-Valckenberg S, Lüning A, Schmid M, Rubin GS, Dunbar H, Tufail A, Crabb DP, Binns A, Sánchez CI, Hoyng C, Margaron P, Zakaria N, Durbin M, Luhmann U, Zamiri P, Cunha-Vaz J, Martinho C, Leal S, Finger RP; MACUSTAR consortium. Trials. 2020 Jul 18;21(1):659. doi: 10.1186/s13063-020-04595-6

      • Retinal and Choroidal Capillary Perfusion Are Reduced in Hypertensive Crisis Irrespective of Retinopathy. Terheyden JH, Wintergerst MWM, Pizarro C, Pfau M, Turski GN, Holz FG, Finger RP. Transl Vis Sci Technol. 2020 Jul 29;9(8):42. doi: 10.1167/tvst.9.8.42. eCollection 2020 Jul. PMID: 32855888 
    • June 2020

      • Loss of Complement Factor H impairs antioxidant capacity and energy metabolism of human RPE cells. Armento A, Honisch S, Panagiotakopoulou V, Sonntag I, Jacob A, Bolz S, Kilger E, Deleidi M, Clark S, Ueffing M. Sci Rep. 2020 Jun 25;10(1):10320. doi: 10.1038/s41598-020-67292-z.

      • Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. Weisschuh N, Obermeier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl SHum Mutat. 2020 Jun 12. doi: 10.1002/humu.24064.
    • May 2020


      • Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion : Cambridge- Color-Test und photorezeptorspezifische zeitliche Kontrastempfindlichkeit bei Patient/Innen mit heterozygoten RP1L1- und RPGR-Mutationen [New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations]. Huchzermeyer C, Fars J, Stöhr H, Kremers J.  Ophthalmologe. 2020 May 26. German. doi: 10.1007/s00347-020-01119-0. 

       

      • Association between Patient-Reported Outcomes and Time to Late Age-Related Macular Degeneration in the Laser Intervention in Early Stages of Age-Related Macular Degeneration Study. McGuinness MB, Finger RP, Wu Z, Luu CD, Chen FK, Arnold JJ, Chakravarthy U, Guymer RH; Laser Intervention in Early Stages of Age-Related Macular Degeneration Study Group. Ophthalmol Retina. 2020 Mar 30. pii: S2468-6530(20)30108-1. doi: 10.1016/j.oret.2020.03.015.

      • Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa. Regensburger M, Minakaki G, Kettwig M, Huchzermeyer C, Eisenhut F, Haack TB, Kohl Z, Winkler J. Mov Disord. 2020 May 18. doi: 10.1002/mds.28106.

      • Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa. Owczarek-Lipska M, Song F, Jaksic V, Neidhardt J. J Gene Med. 2020 May 4:e3211. doi: 10.1002/jgm.321
    • April 2020

      • Association of Visual Function Measures with Drusen Volume in Early Stages of Age-Related Macular Degeneration. Pondorfer SG, Wintergerst MWM, Gorgi Zadeh S, Schultz T, Heinemann M, Holz FG, Finger RP. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):55. doi: 10.1167/iovs.61.3.55.

      • Neuropathic and cAMP-induced pain behavior is ameliorated in mice lacking CNGB1. Kallenborn-Gerhardt W, Metzner K, Lu R, Petersen J, Kuth MS, Heine S, Drees O, Paul M, Becirovic E, Kennel L, Flauaus C, Groß T, Wack G, Hohmann SW, Nemirovski D, Del Turco D, Biel M, Geisslinger G, Michalakis S, Schmidtko A. Neuropharmacology. 2020 Apr 6:108087. doi: 10.1016/j.neuropharm.2020.108087. 

       

      • Multiexon deletion alleles of ATF6 linked to achromatopsia. Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, Lambert SR, Grandjean JM, Baumann B, Audo I, Kohl S, Moore AT, Wiseman RL, Carroll J, Lin JH. JCI Insight. 2020 Apr 9;5(7). pii: 136041. doi: 10.1172/jci.insight.136041.

      • Detecting vision loss in intermediate age-related macular degeneration: A comparison of visual function tests. Pondorfer SG, Heinemann M, Wintergerst MWM, Pfau M, Strömer AL, Holz FG, Finger RP. PLoS One. 2020 Apr 16;15(4):e0231748. doi: 10.1371/journal.pone.0231748. 

      • Restriction of eye motility in patients with RETINA IMPLANT Alpha AMS. Faber H, Besch D, Bartz-Schmidt KU, Eisenstein H, Roider J, Sachs H, Gekeler F, Zrenner E, Stingl K. Acta Ophthalmol. 2020 Apr 17. doi: 10.1111/aos.14435.

      • PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. Corral-Serrano JC, Lamers IJC, van Reeuwijk J, Duijkers L, Hoogendoorn ADM, Yildirim A, Argyrou N, Ruigrok RAA, Letteboer SJF, Butcher R, van Essen MD, Sakami S, van Beersum SEC, Palczewski K, Cheetham ME, Liu Q, Boldt K, Wolfrum U, Ueffing M, Garanto A, Roepman R, Collin RWJ. Proc Natl Acad Sci U S A. 2020 Apr 20. pii: 201903125. doi: 10.1073/pnas.1903125117.


      • Crocetin Prevents RPE Cells from Oxidative Stress through Protection of Cellular Metabolic Function and Activation of ERK1/2. Karimi P, Gheisari A, Gasparini SJ, Baharvand H, Shekari F, Satarian L, Ader M. Int J Mol Sci. 2020 Apr 22;21(8). pii: E2949. doi: 10.3390/ijms21082949.
    • March 2020

      • Electronic Retina Implants - an Abandoned Dream? Faber H, Bartz-Schmidt KU, Stett A, Zrenner E, Stingl K. Klin Monbl Augenheilkd. 2020 Mar;237(3):288-293. doi: 10.1055/a-1021-5040. 

       


      • Ophthalmic Genetics: Insights into Actual Methods of Diagnostics, Phenotyping and Therapy. Lorenz B. Klin Monbl Augenheilkd. 2020 Mar;237(3):236-238. doi: 10.1055/a-1092-4982. 
    • February 2020

      • Optogenetics for neural transplant manipulation and functional analysis. Habibey R, Sharma K, Swiersy A, Busskamp V. Biochem Biophys Res Commun. 2020 Feb 4. pii: S0006-291X(20)30224-2. doi: 10.1016/j.bbrc.2020.01.14

      • Retinal oedema in central retinal artery occlusion develops as a function of time. Ochakovski GA, Wenzel DA, Spitzer MS, Poli S, Härtig F, Fischer MD, Dimopoulos S, Schultheiss M. Acta Ophthalmol. 2020 Feb 10. doi: 10.1111/aos.14375

      • Using Transcriptomic Analysis to Assess Double-Strand Break Repair Activity: Towards Precise in vivo Genome Editing. Pasquini G, Cora V, Swiersy A, Achberger K, Antkowiak L, Müller B, Wimmer T, Fraschka SA, Casadei N, Ueffing M, Liebau S, Stieger K, Busskamp V. Int J Mol Sci. 2020 Feb 18;21(4). pii: E1380. doi: 10.3390/ijms21041380.

      • Adaptive Optics for Photoreceptor-Targeted Psychophysics. Harmening WM, Sincich LC. In: Bille JF, editor. High Resolution Imaging in Microscopy and Ophthalmology: New Frontiers in Biomedical Optics [Internet]. Cham (CH): Springer; 2019. PMID: 32091852 [PubMed]

      • Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE. Nat Med. 2020 Feb 24. doi: 10.1038/s41591-020-0763-1.
    • January 2020

      • IL-1β induces rod degeneration through the disruption of retinal glutamate homeostasis. Charles-Messance H, Blot G, Couturier A, Vignaud L, Touhami S, Beguier F, Siqueiros L, Forster V, Barmo N, Augustin S, Picaud S, Sahel JA, Rendon A, Grosche A, Tadayoni R, Sennlaub F, Guillonneau X. J Neuroinflammation. 2020 Jan 3;17(1):1. doi: 10.1186/s12974-019-1655-5.

      • Phase 1 Study of OPT-302 Inhibition of Vascular Endothelial Growth Factors C and D for Neovascular Age-Related Macular Degeneration. Dugel PU, Boyer DS, Antoszyk AN, Steinle NC, Varenhorst MP, Pearlman JA, Gillies MC, Finger RP, Baldwin ME, Leitch IM. Ophthalmol Retina. 2019 Oct 23. pii: S2468-6530(19)30598-6. doi: 10.1016/j.oret.2019.10.008.

      • Occurrence of retinal ganglion cell loss via autophagy and apoptotic pathways in an autoimmune glaucoma model. Reinehr S, Buschhorn V, Mueller-Buehl AM, Goldmann T, Grus FH, Wolfrum U, Dick HB, Joachim SC. Curr Eye Res. 2020 Jan 14. doi: 10.1080/02713683.2020.1716987.
    • December 2019

      • Objective Measurement of Local Rod and Cone Function Using Gaze-Controlled Chromatic Pupil Campimetry in Healthy Subjects. Kelbsch C, Stingl K, Kempf M, Strasser T, Jung R, Kuehlewein L, Wilhelm H, Peters T, Wilhelm B, Stingl K. Transl Vis Sci Technol. 2019 Nov 20;8(6):19. doi: 10.1167/tvst.8.6.19. eCollection 2019 Nov.

      • Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site. Riedmayr LM, Böhm S, Biel M, Becirovic E. Hum Mol Genet. 2019 Dec 9. pii: ddz291. doi: 10.1093/hmg/ddz291.

      • Rod nuclear architecture determines contrast transmission of the retina and behavioral sensitivity in mice. Subramanian K, Weigert M, Borsch O, Petzold H, Garcia-Ulloa A, Myers EW, Ader MSolovei I, Kreysing M. Elife. 2019 Dec 11;8. pii: e49542. doi: 10.7554/eLife.49542.


      • An update on retinal prostheses. Ayton LN, Barnes N, Dagnelie G, Fujikado T, Goetz G, Hornig R, Jones BW, Muqit MMK, Rathbun DL, Stingl K, Weiland JD, Petoe MA. Clin Neurophysiol. 2019 Dec 10. pii: S1388-2457(19)31326-4. doi: 10.1016/j.clinph.2019.11.029. 

      • Non-contact smartphone-based fundus imaging compared to conventional fundus imaging: a low-cost alternative for retinopathy of prematurity screening and documentation. Wintergerst MWM, Petrak M, Li JQ, Larsen PP, Berger M, Holz FG, Finger RP, Krohne TU. Sci Rep. 2019 Dec 23;9(1):19711. doi: 10.1038/s41598-019-56155-x.

      • Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations. Stingl KT, Kuehlewein L, Weisschuh N, Biskup S, Cremers FPM, Khan MI, Kelbsch C, Peters T, Ueffing M, Wilhelm B, Zrenner E, Stingl K. Transl Vis Sci Technol. 2019 Dec 20;8(6):45. doi: 10.1167/tvst.8.6.45.

      • HDAC Inhibition Prevents Primary Cone Degeneration Even After the Onset of Degeneration. Samardzija M, Masarini K, Ueffing M, Trifunović D. Adv Exp Med Biol. 2019;1185:383-387. doi: 10.1007/978-3-030-27378-1_63.

    • November 2019

      • Prevalence and incidence of age-related macular degeneration in Europe: a systematic review and meta-analysis. Li JQ, Welchowski T, Schmid M, Mauschitz MM, Holz FG, Finger RP. Br J Ophthalmol. 2019 Nov 11. pii: bjophthalmol-2019-314422. doi: 10.1136/bjophthalmol-2019-314422

      • CEP290 mutation spectrum and delineation of the associated phenotype in a large German cohort: a monocentric study. Feldhaus B, Weisschuh N, Nasser F, den Hollander AI, Cremers FPM, Zrenner E, Kohl S, Zobor D. Am J Ophthalmol. 2019 Nov 14. pii: S0002-9394(19)30551-3. doi: https://www.ncbi.nlm.nih.gov/pubmed/31734136


      • Validating a tool to assess eye health knowledge, attitude and practice in Cambodia and Vietnam. Prasad N, Ormsby GM, Finger RP. Int J Ophthalmol. 2019 Nov 18;12(11):1767-1774. doi: 10.18240/ijo.2019.11.16.

      • Electrophysiological Studies on The Dynamics of Luminance Adaptation in the Mouse Retina. Joachimsthaler A, Tsai TI, Kremers J. Vision (Basel). 2017 Oct 17;1(4). pii: E23. doi: 10.3390/vision1040023.

      • Safety, Efficacy and Protective Aspects of an Add-on Paracentesis during Intravitreal Injections. Koss MJ, Bolz M, Augustin AJ, Koch F, Szurman P, Stanzel B, Fauser S, Mennel S, Vossmerbäumer U, de Smet MD, Höhn F, Küchle M, Lorenz B, Lüke M, Lytvynchuk L, Meyer CH, Paul C, Rodrigues EB, Schrage N, Zehnder C. Klin Monbl Augenheilkd. 2019 Nov 26. doi: 10.1055/a-0972-9747

       

      • Fluorescence Angiography-assisted Management of Recurrences in Aggressive Posterior Retinopathy of Prematurity (APROP) after Intravitreal Monotherapy with 0.312 mg Bevacizumab. Andrassi-Darida M, Mais C, Stieger K, Lorenz B. Klin Monbl Augenheilkd. 2019 Nov 26. doi: 10.1055/a-1012-1999

       

      • Oxidative Stress Increases Endogenous Complement-Dependent Inflammatory and Angiogenic Responses in Retinal Pigment Epithelial Cells Independently of Exogenous Complement Sources. Trakkides TO, Schäfer N, Reichenthaler M, Kühn K, Brandwijk RJMGE, Toonen EJM, Urban F, Wegener J, Enzmann V, Pauly D. Antioxidants (Basel). 2019 Nov 13;8(11). pii: E548. doi: 10.3390/antiox8110548.

      • Cell-Type-Specific Complement Expression in the Healthy and Diseased Retina. Pauly D, Agarwal D, Dana N, Schäfer N, Biber J, Wunderlich KA, Jabri Y, Straub T, Zhang NR, Gautam AK, Weber BHF, Hauck SM, Kim M, Curcio CA, Stambolian D, Li M, Grosche A. Cell Rep. 2019 Nov 26;29(9):2835-2848.e4. doi: 10.1016/j.celrep.2019.10.084
    • October 2019

      • The photopic negative response of the Light-adapted 3.0 ERG in clinical settings. Ortiz G, Drucker D, Hyde C, Staffetti J, Kremers J, Tzekov R. Doc Ophthalmol. 2019 Oct 1. doi: 10.1007/s10633-019-09723-5.

      • Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. Nasser F, Kurtenbach A, Biskup S, Weidensee S, Kohl S, Zrenner E. Acta Ophthalmol. 2019 Oct 3. doi: 10.1111/aos.14255.

      • Secondary and Exploratory Outcomes of the Subthreshold Nanosecond Laser Intervention Randomized Trial in Age-Related Macular Degeneration: A LEAD Study Report. Wu Z, Luu CD, Hodgson LAB, Caruso E, Brassington KH, Tindill N, Aung KZ, Harper CA, Wickremasinghe SS, Sandhu SS, McGuinness MB, Chen FK, Chakravarthy U, Arnold JJ, Heriot WJ, Durkin SR, Wintergerst MWM, Gorgi Zadeh S, Schultz T, Finger RP, Cohn AC, Baglin EK, Sharangan P, Guymer RH; LEAD Study Group. Ophthalmol Retina. 2019 Jul 22. pii: S2468-6530(19)30467-1. doi: 10.1016/j.oret.2019.07.008.

      • Restoration of visual function by transplantation of optogenetically engineered photoreceptors. Garita-Hernandez M, Lampič M, Chaffiol A, Guibbal L, Routet F, Santos-Ferreira T, Gasparini S, Borsch O, Gagliardi G, Reichman S, Picaud S, Sahel JA, Goureau O, Ader M, Dalkara D, Duebel J. Nat Commun. 2019 Oct 4;10(1):4524. doi: 10.1038/s41467-019-12330-2.

      • Lack of a Retinal Phenotype in a Syne-2/Nesprin-2 Knockout Mouse Model. Falk N, Joachimsthaler A, Kessler K, Lux UT, Noegel AA, Kremers J, Brandstätter JH, Gießl A. Cells. 2019 Oct 11;8(10). pii: E1238. doi: 10.3390/cells8101238.

      • Real-world data in retinal diseases treated with anti-vascular endothelial growth factor (anti-VEGF) therapy - a systematic approach to identify and characterize data sources. Daien V, Eldem BM, Talks JS, Korobelnik JF, Mitchell P, Finger RP, Sakamoto T, Wong TY, Evuarherhe O, Carter G, Carrasco J. MC Ophthalmol. 2019 Oct 16;19(1):206. doi: 10.1186/s12886-019-1208-9.

      • PRCD is Concentrated at the Base of Photoreceptor Outer Segments and is Involved in Outer Segment Disc Formation. Allon G, Mann I, Remez L, Sehn E, Rizel L, Nevet MJ, Perlman I, Wolfrum U, Ben-Yosef T. Hum Mol Genet. 2019 Oct 19. pii: ddz248. doi: 10.1093/hmg/ddz248

      • Impact of visual impairment on physical activity in early and late age-related macular degeneration. Heinemann M, Welker SG, Li JQ, Wintergerst MWM, Turski GN, Turski CA, Terheyden JH, Mauschitz MM, Holz FG, Finger RP. PLoS One. 2019 Oct 21;14(10):e0222045. doi: 10.1371/journal.pone.0222045. eCollection 2019.

      • Intrinsic Differential Scanning Fluorimetry for Fast and Easy Identification of AAV Serotypes. Rieser R, Penaud-Budloo M, Bouzelha M, Rossi A, Menzen T, Biel M, Büning H, Ayuso E, Winter G, Michalakis S. J Pharm Sci. 2019 Oct 19. pii: S0022-3549(19)30668-9. doi: 10.1016/j.xphs.2019.10.031. 

      • SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins. Sorusch N, Yildirim A, Knapp B, Janson J, Fleck W, Scharf C, Wolfrum U. Front Cell Dev Biol. 2019 Oct 4;7:216. doi: 10.3389/fcell.2019.00216

      • Surgical Approaches for Cell Therapeutics Delivery to the Retinal Pigment Epithelium and Retina. Stanzel B, Ader M, Liu Z, Amaral J, Aguirre LIR, Rickmann A, Barathi VA, Tan GSW, Degreif A, Al-Nawaiseh S, Szurman P. Adv Exp Med Biol. 2019;1186:141-170. doi: 10.1007/978-3-030-28471-8_6.

      • Association of Vision-related Quality of Life with Visual Function in Age-Related Macular Degeneration. Pondorfer SG, Terheyden JH, Heinemann M, Wintergerst MWM, Holz FG, Finger RP. Sci Rep. 2019 Oct 25;9(1):15326. doi: 10.1038/s41598-019-51769-7.
    • September 2019

      • Prevalence, incidence and future projection of diabetic eye disease in Europe: a systematic review and meta-analysis. Li JQ, Welchowski T, Schmid M, Letow J, Wolpers C, Pascual-Camps I, Holz FG, Finger RP. Eur J Epidemiol. 2019 Sep 12. doi: 10.1007/s10654-019-00560-z.

      • The melanopsin-directed white noise electroretinogram (wnERG). Adhikari P, Zele AJ, Cao D, Kremers J, Feigl B. Vision Res. 2019 Sep 18. pii: S0042-6989(19)30161-0. doi: 10.1016/j.visres.2019.08.007.

      • Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Sampol LM, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Hum Mutat. 2019 Sep 23. doi: 10.1002/humu.23920

      • VEGF-Trap is a potent modulator of vasoregenerative responses and protects dopaminergic amacrine network integrity in degenerative ischemic neovascular retinopathy. Rojo Arias JE, Economopoulou M, Juárez López DA, Kurzbach A, Au Yeung KH, Englmaier V, Merdausl M, Schaarschmidt M, Ader M, Morawietz H, Funk RH, Jászai J. J Neurochem. 2019 Sep 24. doi: 10.1111/jnc.14875

      • Precision of bag-in-the-lens intraocular lens power calculation in different age groups of pediatric cataract patients: Report of the Giessen Pediatric Cataract Study Group. Lytvynchuk LM, Thiele MV, Schmidt W, Lorenz B. J Cataract Refract Surg. 2019 Oct;45(10):1372-1379. doi: 10.1016/j.jcrs.2019.05.032.

      • Properties of the Impact of Vision Impairment and Night Vision Questionnaires Among People With Intermediate Age-Related Macular Degeneration. McGuinness MB, Finger RP, Wu Z, Luu CD, Chen FK, Arnold JJ, Chakravarthy U, Heriot WJ, Runciman J, Guymer RH; LEAD Study Group. Transl Vis Sci Technol. 2019 Sep 11;8(5):3. doi: 10.1167/tvst.8.5.3.
    • August 2019

      • Analysis and management of intraoperative and early postoperative complications of bag-in-the-lens intraocular lens implantation in different age groups of paediatric cataract patients: report of the Giessen Paediatric Cataract Study Group. Lytvynchuk LM, Thiele MV, Lorenz B. Acta Ophthalmol. 2019 Aug 17. doi: 10.1111/aos.14229.

      • Computer-assisted intra-operative verification of surgical outcome for the treatment of syndesmotic injuries through contralateral side comparison. Thomas S, Isensee F, Kohl S, Privalov M, Beisemann N, Swartman B, Keil H, Vetter SY, Franke J, Grützner PA, Maier-Hein L, Nolden M, Maier-Hein K. Int J Comput Assist Radiol Surg. 2019 Aug 7. doi: 10.1007/s11548-019-02043-8.

      • Eye tracking-based estimation and compensation of chromatic offsets for multi-wavelength retinal microstimulation with foveal cone precision. Domdei N, Linden M, Reiniger JL, Holz FG, Harmening WM. Biomed Opt Express. 2019 Jul 18;10(8):4126-4141. eCollection 2019 Aug 1. doi: 10.1364/BOE.10.004126

      • Merging organoid and organ-on-a-chip technology to generate complex multi-layer tissue models in a human Retina-on-a-Chip platform. Achberger K, Probst C, Haderspeck J, Bolz S, Rogal J, Chuchuy J, Nikolova M, Cora V, Antkowiak L, Haq W, Shen N, Schenke-Layland K, Ueffing M, Liebau S, Loskill P. Elife. 2019 Aug 27;8. pii: e46188. doi: 10.7554/eLife.46188. 

      • Efficacy and Safety of Retinal Gene Therapy Using Adeno-Associated Virus Vector for Patients With Choroideremia: A Randomized Clinical Trial. Fischer MD, Ochakovski GA, Beier B, Seitz IP, Vaheb Y, Kortuem C, Reichel FFL, Kuehlewein L, Kahle NA, Peters T, Girach A, Zrenner E, Ueffing M, MacLaren RE, Bartz-Schmidt KU, Wilhelm B. JAMA Ophthalmol. 2019 Aug 29. doi: 10.1001/jamaophthalmol.2019.3278
    • July 2019

      • Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. FASEB J. 2019 Jul 25:fj201900914RR. doi: 10.1096/fj.201900914RR

      • A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration. Handa JT, Bowes Rickman C, Dick AD, Gorin MB, Miller JW, Toth CA, Ueffing M, Zarbin M, Farrer LA. Nat Commun. 2019 Jul 26;10(1):3347. doi: 10.1038/s41467-019-11262-1. Review.

      • Fundus-Controlled Dark Adaptometry in Young Children Without and With Spontaneously Regressed Retinopathy of Prematurity. Bowl W, Lorenz B, Stieger K, Schweinfurth S, Holve K, Andrassi-Darida M. Transl Vis Sci Technol. 2019 Jun 28;8(3):62. doi: 10.1167/tvst.8.3.62.

      • The Emergence of Stem Cell-Based Brain Organoids: Trends and Challenges. Gopalakrishnan J. Bioessays. 2019 Jul 5:e1900011. doi: 10.1002/bies.201900011. [Epub ahead of print] Review. PMID: 31274205

      • Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study. Stingl K, Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Kohl S, Bonnet C, Mohand-Saïd S, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Sahel JA, Zrenner E. Doc Ophthalmol. 2019 Jul 2. doi: 10.1007/s10633-019-09704-8.

      • Minimal Variant of an Optic Disc Pit with Cecocentral Scotoma Due to Limited Progressive Retinal Ganglion Cell Atrophy - a Case Report. Starosta DA, Lorenz B. Klin Monbl Augenheilkd. 2019 Jul 2. doi: 10.1055/a-0901-7582.
    • June 2019

      • Characterization of Retinal Structure in ATF6-Associated Achromatopsia. Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047. PMID: 31237654

      • Metabolomics in serum of patients with non-advanced age-related macular degeneration reveals aberrations in the glutamine pathway. Kersten E, Dammeier S, Ajana S, Groenewoud JMM, Codrea M, Klose F, Lechanteur YT, Fauser S, Ueffing M, Delcourt C, Hoyng CB, de Jong EK, den Hollander AI; EYE-RISK Consortium. PLoS One. 2019 Jun 20;14(6):e0218457. doi: 10.1371/journal.pone.0218457 

      • Linking bioenergetic function of mitochondria to tissue-specific molecular fingerprints. Kappler L, Hoene M, Hu C, von Toerne C, Li J, Bleher D, Hoffmann C, Böhm A, Kollipara L, Zischka H, Königsrainer A, Häring HU, Peter A, Xu G, Sickmann A, Hauck SM, Weigert C, Lehmann R. Am J Physiol Endocrinol Metab. 2019 Jun 18. doi: 10.1152/ajpendo.00088.2019.

      • High-dose Anderson operation for nystagmus-related anomalous head turn. Gräf M, Hausmann A, Lorenz B. Graefes Arch Clin Exp Ophthalmol. 2019 Jun 14. doi: 10.1007/s00417-019-04369-0

      • The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. Milenkovic A, Schmied D, Tanimoto N, Seeliger MW, Sparrow JR, Weber BHF. Biol Open. 2019 Jun 14. pii: bio.041335. doi: 10.1242/bio.041335.

      • Analysis of Biomechanical Properties of Hematopoietic Stem and Progenitor Cells Using Real-Time Fluorescence and Deformability Cytometry. Jacobi A, Rosendahl P, Kräter M, Urbanska M, Herbig M, Guck J. Methods Mol Biol. 2019;2017:135-148. doi: 10.1007/978-1-4939-9574-5_11

      • Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, K Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735

      • Determinants of Macular Layers and Optic Disc Characteristics on SD-OCT: The Rhineland Study. Mauschitz MM, Holz FG, Finger RP, Breteler MMB. Transl Vis Sci Technol. 2019 Jun 4;8(3):34. doi: 10.1167/tvst.8.3.34

      • Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B. Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098

      • Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness. Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G. Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1207-1215. doi: 10.1007/s00417-019-04319-w


      • Vision-related quality of life considering both eyes: results from the German population-based Gutenberg Health Study (GHS). Nickels S, Schuster AK, Elflein H, Wolfram C, Schulz A, Münzel T, Beutel ME, Schmidtmann I, Finger RP, Pfeiffer N. Health Qual Life Outcomes. 2019 Jun 6;17(1):98. doi: 10.1186/s12955-019-1158-1

      • Incidence of Rhegmatogenous Retinal Detachment in Europe - A Systematic Review and Meta-Analysis. Li JQ, Welchowski T, Schmid M, Holz FG, Finger RP. Ophthalmologica. 2019 Jun 21:1-6. doi: 10.1159/000499489

      • Linking bioenergetic function of mitochondria to tissue-specific molecular fingerprints. Kappler L, Hoene M, Hu C, von Toerne C, Li J, Bleher D, Hoffmann C, Böhm A, Kollipara L, Zischka H, Königsrainer A, Häring HU, Peter A, Xu G, Sickmann A, Hauck SM, Weigert C, Lehmann R. Am J Physiol Endocrinol Metab. 2019 Jun 18. doi: 10.1152/ajpendo.00088.2019

      • The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. Milenkovic A, Schmied D, Tanimoto N, Seeliger MW, Sparrow JR, Weber BHF. Biol Open. 2019 Jun 14. pii: bio.041335. doi: 10.1242/bio.041335
    • May 2019


      • CRX Expression in Pluripotent Stem Cell-Derived Photoreceptors Marks a Transplantable Subpopulation of Early Cones. Collin J, Zerti D, Queen R, Santos-Ferreira T, Bauer R, Coxhead J, Hussain R, Steel D, Mellough C, Ader M, Sernagor E, Armstrong L, Lako M. Stem Cells. 2019 May;37(5):609-622. doi: 10.1002/stem.2974 

      • Abolishing cAMP sensitivity in HCN2 pacemaker channels induces generalized seizures. Hammelmann V, Stieglitz MS, Hülle H, Le Meur K, Kass J, Brümmer M, Gruner C, Rötzer RD, Fenske S, Hartmann J, Zott B, Lüthi A, Spahn S, Moser M, Isbrandt D, Ludwig A, Konnerth A, Wahl-Schott C, Biel M. JCI Insight. 2019 May 2;4(9). pii: 126418. doi: 10.1172/jci.insight.126418


      • Retinal miRNA Functions in Health and Disease. Zuzic M, Rojo Arias JE, Wohl SG, Busskamp V. Genes (Basel). 2019 May 17;10(5). pii: E377. doi: 10.3390/genes10050377

      • Pro re nata anti-VEGF treatment results for neovascular age-related macular degeneration in routine clinical treatment: comparison of single with triple injections]. Wintergerst MWM, Larsen PP, Heimes B, Pauleikhoff D, Holz FG, Finger RP. Ophthalmologe. 2019 May;116(5):441-446. doi: 10.1007/s00347-018-0747-4

      • Ophthalmology 2019-where do we stand? : An analysis of the treatment situation in Germany. Schuster AK, Wolfram C, Pfeiffer N, Finger RP. Ophthalmologe. 2019 May 3. doi: 10.1007/s00347-019-0894-2

      • Controlling distinct signaling states in cultured cancer cells provides a new platform for drug discovery. Poser SW, Otto O, Arps-Forker C, Ge Y, Herbig M, Andree C, Gruetzmann K, Adasme MF, Stodolak S, Nikolakopoulou P, Park DM, Mcintyre A, Lesche M, Dahl A, Lennig P, Bornstein SR, Schroeck E, Klink B, Leker RR, Bickle M, Chrousos GP, Schroeder M, Cannistraci CV, Guck J, Androutsellis-Theotokis A. FASEB J. 2019 May 30:fj201802603RR. doi: 10.1096/fj.201802603RR

      • Habitual higher order aberrations affect Landolt but not Vernier acuity. Reiniger JL, Lobecke AC, Sabesan R, Bach M, Verbakel F, de Brabander J, Holz FG, Berendschot TTJM, Harmening WM. J Vis. 2019 May 1;19(5):11. doi: 10.1167/19.5.11

      • Electrodiagnosis of dichromacy. Barboni MTS, Hauzman E, Nagy BV, Martins CMG, Aher AJ, Tsai TI, Bonci DMO, Ventura DF, Kremers J. Vision Res. 2019 May;158:135-145. doi: 10.1016/j.visres.2019.02.01

      • Mouse Cones Adapt Fast, Rods Slowly In Vivo. Joachimsthaler A, Kremers J. Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2152-2164. doi: 10.1167/iovs.18-26356

      • In vivo electroretinographic differentiation of rod, short-wavelength and long/medium-wavelength cone responses in dogs using silent substitution stimuli. Mowat FM, Wise E, Oh A, Foster ML, Kremers J. Exp Eye Res. 2019 May 22;185:107673. doi: 10.1016/j.exer.2019.05.013

      • CiliaCarta: An integrated and validated compendium of ciliary genes. van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA. PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705

      • Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Hum Mutat. 2019 May 6. doi: 10.1002/humu.23768

      • Optimizing Measurement of Vascular Endothelial Growth Factor in Small Blood Samples of Premature Infants. Lopez Yomayuza CC, Preissner KT, Lorenz B, Stieger K. Sci Rep. 2019 May 1;9(1):6744. doi: 10.1038/s41598-019-43108-7

      • Dynamic intraoperative optical coherence tomography for inverted internal limiting membrane flap technique in large macular hole surgery. Lytvynchuk LM, Falkner-Radler CI, Krepler K, Glittenberg CG, Ahmed D, Petrovski G, Lorenz B, Ansari-Shahrezaei S, Binder S. Graefes Arch Clin Exp Ophthalmol. 2019 May 28. doi: 10.1007/s00417-019-04364-5

    • April 2019

      • A Cleared View on Retinal Organoids. Cora V, Haderspeck J, Antkowiak L, Mattheus U, Neckel PH, Mack AF, Bolz S, Ueffing M, Pashkovskaia N, Achberger K, Liebau S. Cells. 2019 Apr 28;8(5). pii: E391. doi: 10.3390/cells8050391

      • A case of X-linked retinoschisis with atypical fundus appearance. Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E. Doc Ophthalmol. 2019 Apr 20. doi: 10.1007/s10633-019-09698-3

      • Optical coherence tomography angiography (OCT-A) in an animal model of laser-induced choroidal neovascularization. Meyer JH, Larsen PP, Strack C, Harmening WM, Krohne TU, Holz FG, Schmitz-Valckenberg S. Exp Eye Res. 2019 Jul;184:162-171. doi: 10.1016/j.exer.2019.04.002

      • Cone-Mediated Function Correlates to Altered Foveal Morphology in Preterm-Born Children at School Age. Bowl W, Raoof S, Lorenz B, Holve K, Schweinfurth S, Stieger K, Andrassi-Darida M. Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1614-1620. doi: 10.1167/iovs.18-24892


      • Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation. Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E. Doc Ophthalmol. 2019 Apr;138(2):153-160. doi: 10.1007/s10633-019-09675-w

      • A Multiple Piccolino-RIBEYE Interaction Supports Plate-Shaped Synaptic Ribbons in Retinal Neurons. Müller TM, Gierke K, Joachimsthaler A, Sticht H, Izsvák Z, Hamra FK, Fejtová A, Ackermann F, Garner CC, Kremers J, Brandstätter JH, Regus-Leidig H. J Neurosci. 2019 Apr 3;39(14):2606-2619. doi: 10.1523/JNEUROSCI.2038-18.2019

      • Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients. Palmowski-Wolfe A, Stingl K, Habibi I, Schorderet D, Tran HV. Klin Monbl Augenheilkd. 2019 Apr;236(4):562-567. doi: 10.1055/a-0811-5480

       

    • March 2019

      • Retinal findings in carriers of monoallelic ABCC6 mutations. Gliem M, Wieg I, Birtel J, Müller PL, Faust I, Hendig D, Holz FG, Finger RP, Charbel Issa P. Br J Ophthalmol. 2019 Mar 28. pii: bjophthalmol-2018-313448. doi: 10.1136/bjophthalmol-2018-313448

      • Awareness of Age-Related Macular Degeneration in Community-Dwelling Elderly Persons in Germany. Heinemann M, Welker SG, Li JQ, Wintergerst MWM, Turski GN, Turski CA, Holz FG, Finger RP. Ophthalmic Epidemiol. 2019 Mar 28:1-6. doi: 10.1080/09286586.2019.1597898

      • Pathway-specific light adaptation in human electroretinograms. Brasil A, Tsai TI, da Silva Souza G, Herculano AM, Ventura DF, de Lima Silveira LC, Kremers J. J Vis. 2019 Mar 1;19(3):12. doi: 10.1167/19.3.12

      • Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. Kretschmer V, Patnaik SR, Kretschmer F, Chawda MM, Hernandez-Hernandez V, May-Simera HL. Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):1132-1143. doi: 10.1167/iovs.18-25210

      • Reduced Visual Acuity at the Age of 3 Years and Flat Unilateral Retinal Detachment at the Age of 9 Years - History of a Child with Compound Heterozygous RP1 Mutations. Starosta DA, Lorenz B, Lytvynchuk L, Preising MN. Klin Monbl Augenheilkd. 2019 Mar;236(3):286-288. doi: 10.1055/a-0832-9800

      • The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations. Preising MN, Schneider U, Friedburg C, Gruber H, Lindner S, Lorenz B. Klin Monbl Augenheilkd. 2019 Mar;236(3):244-252. doi: 10.1055/a-0842-3250

      • Vision-related Quality of Life with Low Vision - Assessment and Instruments. Terheyden JH, Finger RP. Klin Monbl Augenheilkd. 2019 Mar;236(3):261-268. doi: 10.1055/a-0838-5810


      • Ophthalmic Genetics: Insights into Current (Latest) Methods of Diagnostics, Phenotyping and Therapy. Lorenz B. Klin Monbl Augenheilkd. 2019 Mar;236(3):234-235. doi: 10.1055/a-0842-5097

      • Electrodiagnosis of dichromacy. Barboni MTS, Hauzman E, Nagy BV, Martins CMG, Aher AJ, Tsai TI, Bonci DMO, Ventura DF, Kremers J. Vision Res. 2019 May;158:135-145. doi: 10.1016/j.visres.2019.02.011

      • A retinal model of cerebral malaria. Paquet-Durand F, Beck SC, Das S, Huber G, Le Chang, Schubert T, Tanimoto N, Garcia-Garrido M, Mühlfriedel R, Bolz S, Hoffmann W, Schraermeyer U, Mordmüller B, Seeliger MW. Sci Rep. 2019 Mar 5;9(1):3470. doi: 10.1038/s41598-019-39143-z

      • Psychosocial assessment of potential retinal prosthesis trial participants. Bentley SA, O'Hare F, Murphy GC, Finger RP, Luu CD, Keeffe JE, Abbott CJ, Guymer RH, Ayton LN. Clin Exp Optom. 2019 Mar 4. doi: 10.1111/cxo.12889

      • Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S. Graefes Arch Clin Exp Ophthalmol. 2019 Mar;257(3):629-638. doi: 10.1007/s00417-018-04233-7

      • Transplantation of photoreceptors into the degenerative retina: Current state and future perspectives. Gasparini SJ, Llonch S, Borsch O, Ader M. Prog Retin Eye Res. 2019 Mar;69:1-37. doi: 10.1016/j.preteyeres.2018.11.001

      • The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ. Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024
    • February 2019

      • Steady-State Visually Evoked Potentials Elicited by Multifrequency Pattern-Reversal Stimulation. Hohberger B, Kremers J, Horn FK. Transl Vis Sci Technol. 2019 Feb 28;8(1):24. doi: 10.1167/tvst.8.1.24

      • Changes in microchip position after implantation of a subretinal vision prosthesis in humans. Kuehlewein L, Troelenberg N, Schleehauf S, Kusnyerik A, Jackson TL, MacLaren RE, Chee C, Roider J, Wilhelm B, Gekeler F, Bartz-Schmidt KU, Zrenner E, Stingl K. Acta Ophthalmol. 2019 Feb 28. doi: 10.1111/aos.14077

      • The use of real-world evidence for evaluating anti-vascular endothelial growth factor treatment of neovascular age-related macular degeneration. Talks J, Daien V, Finger RP, Eldem B, Sakamoto T, Cardillo JA, Mitchell P, Wong TY, Korobelnik JF. Surv Ophthalmol. 2019 Feb 22. pii: S0039-6257(17)30337-5. doi: 10.1016/j.survophthal.2019.02.008

      • The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia. Mages K, Grassmann F, Jägle H, Rupprecht R, Weber BHF, Hauck SM, Grosche A. J Neuroinflammation. 2019 Feb 18;16(1):43. doi: 10.1186/s12974-019-1424-5

      • Epidemiology of severe visual impairment and blindness of old people in Germany. Mauschitz MM, Li JQ, Larsen PP, Köberlein-Neu J, Holz FG, Breteler MMB, Finger RP. Ophthalmologe. 2019 Feb;116(2):201-212. doi: 10.1007/s00347-019-0853-y

      • Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation. Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E. Doc Ophthalmol. 2019 Apr;138(2):153-160. doi: 10.1007/s10633-019-09675-w

      • Hematopoietic hypoxia-inducible factor 2α deficiency ameliorates pathological retinal neovascularization via modulation of endothelial cell apoptosis. Korovina I, Neuwirth A, Sprott D, Weber S, Sardar Pasha SPB, Gercken B, Breier G, El-Armouche A, Deussen A, Karl MO, Wielockx B, Chavakis T, Klotzsche-von Ameln A. FASEB J. 2019 Feb;33(2):1758-1770. doi: 10.1096/fj.201800430R

      • Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. Patnaik SR, Kretschmer V, Brücker L, Schneider S, Volz AK, Oancea-Castillo LDR, May-Simera HL. Cell Mol Life Sci. 2019 Feb;76(4):757-775. doi: 10.1007/s00018-018-2966-x

    • October 2018

      • Axonal Transport, Phase-Separated Compartments, and Neuron Mechanics - A New Approach to Investigate Neurodegenerative Diseases. Nötzel M, Rosso G, Möllmert S, Seifert A, Schlüßler R, Kim K, Hermann A, Guck J. Front Cell Neurosci. 2018 Oct 9;12:358. doi: 10.3389/fncel.2018.00358


      • CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA. Fischer MD, Ochakovski GA, Beier B, Seitz IP, Vaheb Y, Kortuem C, Reichel FFL, Kuehlewein L, Kahle NA, Peters T, Girach A, Zrenner E, Ueffing M, MacLaren RE, Bartz-Schmidt K, Wilhelm B. Retina. 2018 Oct 9. doi: 10.1097/IAE.000000000000236


      • Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606
    • January 2019

      • Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders. Sauter EJ, Kutsche LK, Klapper SD, Busskamp V. Methods Mol Biol. 2019;1942:101-121. doi: 10.1007/978-1-4939-9080-1_9

      • Prevalence of Retinal Vein Occlusion in Europe: A Systematic Review and Meta-Analysis. Li JQ, Terheyden JH, Welchowski T, Schmid M, Letow J, Wolpers C, Holz FG, Finger RP. Ophthalmologica. 2019;241(4):183-189. doi: 10.1159/000494224




      • The Mouse Retinal Organoid Trisection Recipe: Efficient Generation of 3D Retinal Tissue from Mouse Embryonic Stem Cells. Völkner M, Kurth T, Karl MO. Methods Mol Biol. 2019;1834:119-141. doi: 10.1007/978-1-4939-8669-9_9

      • Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features. Schlegel J, Hoffmann J, Röll D, Müller B, Günther S, Zhang W, Janise A, Vössing C, Fühler B, Neidhardt J, Khanna H, Lorenz B, Stieger K. Transl Res. 2019 Jan;203:57-72. doi: 10.1016/j.trsl.2018.08.006

      • MACUSTAR: Development and Clinical Validation of Functional, Structural, and Patient-Reported Endpoints in Intermediate Age-Related Macular Degeneration. Finger RP, Schmitz-Valckenberg S, Schmid M, Rubin GS, Dunbar H, Tufail A, Crabb DP, Binns A, Sánchez CI, Margaron P, Normand G, Durbin MK, Luhmann UFO, Zamiri P, Cunha-Vaz J, Asmus F, Holz FG; on behalf of the MACUSTAR consortium. Ophthalmologica. 2019;241(2):61-72. doi: 10.1159/000491402
    • December 2018

      • Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation. Schwarz N, Uysal B, Rosa F, Löffler H, Mau-Holzmann UA, Liebau S, Lerche H. Stem Cell Res. 2018 Dec;33:6-9. doi: 10.1016/j.scr.2018.08.019


      • Hif1a inactivation rescues photoreceptor degeneration induced by a chronic hypoxia-like stress. Barben M, Ail D, Storti F, Klee K, Schori C, Samardzija M, Michalakis S, Biel M, Meneau I, Blaser F, Barthelmes D, Grimm C. Cell Death Differ. 2018 Dec;25(12):2071-2085. doi: 10.1038/s41418-018-0094-7

      • Reasons for delayed and discontinued therapy in age-related macular degeneration. Wintergerst MWM, Bouws J, Loss J, Heimes B, Pauleikhoff D, Holz FG, Finger RP. Ophthalmologe. 2018 Dec;115(12):1035-1041. doi: 10.1007/s00347-017-0610-z
    • November 2018

      • Generation of an inducible RPE-specific Cre transgenic-mouse line. Schneider S, Hotaling N, Campos M, Patnaik SR, Bharti K, May-Simera. PLoS One. 2018 Nov 15;13(11):e0207222. doi: 10.1371/journal.pone.0207222

      • Phosphene perception and pupillary responses to sinusoidal electrostimulation - For an objective measurement of retinal function. Kelbsch C, Jalligampala A, Strasser T, Richter P, Braun C, Rathbun DL, Zrenner E, Wilhelm H, Wilhelm B, Peters T, Stingl K. Exp Eye Res. 2018 Nov;176:210-218. doi: 10.1016/j.exer.2018.07.010

      • A new perspective on lipid research in age-related macular degeneration. van Leeuwen EM, Emri E, Merle BMJ, Colijn JM, Kersten E, Cougnard-Gregoire A, Dammeier S, Meester-Smoor M, Pool FM, de Jong EK, Delcourt C, Rodrigez-Bocanegra E, Biarnés M, Luthert PJ, Ueffing M, Klaver CCW, Nogoceke E, den Hollander AI, Lengyel I. Prog Retin Eye Res. 2018 Nov;67:56-86. doi: 10.1016/j.preteyeres.2018.04.006

      • Pupillographic campimetry: an objective method to measure the visual field. Stingl K, Peters T, Strasser T, Kelbsch C, Richter P, Wilhelm H, Wilhelm B. Biomed Tech (Berl). 2018 Nov 27;63(6):729-734. doi: 10.1515/bmt-2017-0029
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